ClinVar Miner

Submissions for variant NM_171998.4(RAB39B):c.503C>A (p.Thr168Lys) (rs587777874)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neurogenetics Research; Murdoch Childrens Research Institute RCV000144685 SCV000190018 pathogenic not provided criteria provided, single submitter not provided Converted during submission to Pathogenic.
OMIM RCV000150034 SCV000196892 pathogenic Early-onset parkinsonism-intellectual disability syndrome 2014-12-04 no assertion criteria provided literature only

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